Linked Data
ClinVar Variation Id:
46406
dbSNP Id:
rs199499672
ExAC:
5:90016771 G / A
gnomAD v2:
5-90016771-G-A
gnomAD v3:
5-90720954-G-A
gnomAD v4:
5-90720954-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90720954G>A , CM000667.2:g.90720954G>A | GRCh38 |
| NC_000005.9:g.90016771G>A , CM000667.1:g.90016771G>A | GRCh37 |
| NC_000005.8:g.90052527G>A | NCBI36 |
| NG_007083.1:g.167155G>A | |
| NG_007083.2:g.196611G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.9643G>A MANE Select | ENSP00000384582.2:p.Glu3215Lys | |
| ENST00000639431.1:c.265+44745G>A | ENSP00000491057.1:n.265+44745G>A | |
| ENST00000640374.1:n.2787G>A | ||
| ENST00000640464.1:n.62G>A | ||
| ENST00000640779.1:c.4372G>A | ||
| ENST00000405460.6:c.9643G>A | ENSP00000384582.2:p.Glu3215Lys | |
| ENST00000509621.1:c.2340G>A | ||
| NM_032119.3:c.9643G>A | NP_115495.3:p.Glu3215Lys | |
| NR_003149.1:n.9656G>A | ||
| XM_011543675.1:c.9640G>A | XP_011541977.1:p.Glu3214Lys | |
| XM_011543676.1:c.9562G>A | XP_011541978.1:p.Glu3188Lys | |
| XM_011543677.1:c.6946G>A | XP_011541979.1:p.Glu2316Lys | |
| XM_011543678.1:c.9643G>A | XP_011541980.1:p.Glu3215Lys | |
| XM_011543679.1:c.9643G>A | XP_011541981.1:p.Glu3215Lys | |
| XR_948560.1:n.272-5145C>T | ||
| NM_032119.4:c.9643G>A MANE Select | NP_115495.3:p.Glu3215Lys | |
| XM_017009963.2:c.9664G>A | XP_016865452.1:p.Glu3222Lys | |
| XM_017009964.2:c.9661G>A | XP_016865453.1:p.Glu3221Lys | |
| XM_017009965.1:c.9661G>A | XP_016865454.1:p.Glu3221Lys | |
| XM_017009966.2:c.9583G>A | XP_016865455.1:p.Glu3195Lys | |
| XM_017009967.1:c.9568G>A | XP_016865456.1:p.Glu3190Lys | |
| XM_017009968.2:c.9664G>A | XP_016865457.1:p.Glu3222Lys | |
| XM_017009969.2:c.9664G>A | XP_016865458.1:p.Glu3222Lys | |
| XM_017009970.2:c.9664G>A | XP_016865459.1:p.Glu3222Lys | |
| XM_017009971.2:c.9664G>A | XP_016865460.1:p.Glu3222Lys | |
| XM_017009972.1:c.2782G>A | XP_016865461.1:p.Glu928Lys | |
| XM_017009973.1:c.2761G>A | XP_016865462.1:p.Glu921Lys | |
| XM_017009974.2:c.9664G>A | XP_016865463.1:p.Glu3222Lys | |
| XR_001742802.1:n.2523-5145C>T | ||
| NR_003149.2:n.9659G>A |